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Including classical galactosaemia in the expanded newborn screening panel using tandem mass spectrometry for galactose-1-phosphate
Arieh S. Cohen
*
, Marta Baurek,
Allan M. Lund
,
Morten Dunø
, David M. Hougaard
*
Corresponding author af dette arbejde
Afdeling for Børn og Unge JMC
Afdeling for Genetik DIA
10
Citationer (Scopus)
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Keyphrases
Tandem Mass Spectrometry
100%
Expanded Newborn Screening
100%
Newborn Screening
100%
Screening Panel
100%
Galactosemia
100%
Glucose-1-phosphate
100%
Screening Performance
40%
Metabolic Disorders
40%
Positive Samples
40%
Biobank
20%
False-positive Results
20%
Mass Spectrometry
20%
Multiplexing
20%
Punching
20%
Neonatal Screening
20%
Tandem Mass Spectrometer
20%
Total Galactose
20%
Galactose-1-phosphate Uridyltransferase
20%
Biochemistry, Genetics and Molecular Biology
Tandem Mass Spectrometry
100%
Newborn Screening
100%
Galactose 1-Phosphate
100%
Screening
37%
Metabolic Disorder
25%
Mass Spectrometry
12%
Galactose
12%
Galactose-1-Phosphate Uridyltransferase
12%